Article
Enzymatic and molecular diagnosis of Gaucher disease.
Clinics in laboratory medicine - 1 Dec 1995
Barranger J A, Rice E, Sakallah S A, Sansieri C, Mifflin T E, Cooper D L
Abstract excerpt
Advances in the knowledge of the molecular genetics of Gaucher disease has made diagnosis more certain. Carrier detection in kindreds in which the responsible mutation has been defined is completely reliable now. Coupled with enzymatic assays, the diagnostic capabilities are greater than before....
Topics
- Base Sequence
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Gaucher Disease
- Genetic Counseling
- Genetic Testing
- Genotype
- Glucosylceramides
- Humans
- Molecular Biology
- Molecular Sequence Data
- Phenotype